Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection [0.03%]
唐氏综合症儿童外周血白细胞亚群、功能和基因表达的改变：对呼吸道感染的影响
Kelley L Colvin,Kristine Wolter-Warmerdam,Francis Hickey et al.
Kelley L Colvin et al.
Objectives: We tested the hypothesis that aberrant expression of Hsa21-encoded interferon genes in peripheral blood immune cells would correlate to immune cell dysfunction in children with Down syndrome (DS). ...
Rapid exome sequencing for children with severe acute encephalopathy - A case series [0.03%]
快速外显子测序在儿童严重急性脑病中的应用 - 病例系列研究
Clair Habib,Tamar Paperna,Rinat Zaid et al.
Clair Habib et al.
Increasingly, next-generation sequencing (NGS) is becoming an invaluable tool in the diagnosis of unexplained acute neurological disorders, such as acute encephalopathy/encephalitis. Here, we describe a brief series of pediatric patients wh...
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs [0.03%]
X连锁低磷血症：反馈焦点小组评估患者和照顾者需求的价值
Estelle Wagner,Aurélia Bertholet-Thomas,Mélanie Romier et al.
Estelle Wagner et al.
X-linked hypophosphatemia (XLH) is a rare, multi-systemic, invalidating disease requiring a multi-disciplinary approach. No specific action in XLH, neither for the patients' specific needs nor for the methodology for the evaluation of these...
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions [0.03%]
ERN骨病：促进罕见骨疾病诊断、研究和治疗的关键欧洲网络
Lorena Casareto,Natasha M Appelman-Dijkstra,Maria Luisa Brandi et al.
Lorena Casareto et al.
There is no universally accepted definition for rare diseases: in Europe a disease is considered to be rare when affecting fewer than 1 in 2000 people. European Reference Networks (ERNs) have been the concrete response to address the unmet ...
Recurrent MECR R258W causes adult-onset optic atrophy: A case report [0.03%]
成人发病的视神经萎缩由复发性MECR R258W引起：病例报告
Nan Jia,Shuiqing Yu,Geng Zhang et al.
Nan Jia et al.
MECR-related neurologic disorder, also known as mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) or dystonia with optic atrophy and basal ganglia abnormalities in childhood (MIM: #617282), is an autosomal reces...
Pachydysostosis of the fibula in a case of familial adenomatous polyposis [0.03%]
家族性腺瘤息肉病中纤维骨的厚状骨化不全症
Daniela Oliveira,Sofia Maia,Inês Balacó et al.
Daniela Oliveira et al.
Background: Familial Adenomatous Polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome caused by germline APC mutations and characterised by an increased risk of CRC and colonic polyps and, in certain forms...
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families [0.03%]
五个无关家庭中的八个受影响个体的TP63相关疾病的谱系
Merve Soğukpınar,Gülen Eda Utine,Koray Boduroğlu et al.
Merve Soğukpınar et al.
TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankylo...
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not? [0.03%]
兰兹-马耶夫斯基综合征和反复发作的中耳炎：相关还是不相关？
Fayize Maden Bedel,Özgür Balasar,Selma Erol Aytekin et al.
Fayize Maden Bedel et al.
Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features, brachydactyly, symphalangism and cutis laxa. Nineteen cases have been reported i...
Evaluating ClinGen variant curation expert panels' application of PVS1 code [0.03%]
评估ClinGen变异物整理专家小组对PVS1代码的应用
Xiaoyan Wang,Haibo Li,Haiyan Luo et al.
Xiaoyan Wang et al.
Background: The 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines articulates that the effects of certain types of variants on gene function can often b...
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression [0.03%]
具有异常HOX / MEIS1表达的儿童急性髓系白血病的治疗靶向actionDate：2021-04-08搪塞：具有异常HOX/MEIS1表达的儿童急性髓性白血病的治疗方法
Kristian L Juul-Dam,Neerav N Shukla,Todd M Cooper et al.
Kristian L Juul-Dam et al.
Despite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities...